Associated Papers
Current understanding of usher syndrome type II.
Yang J et al.
Frontiers in Bioscience (landmark Edition), 2012
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.
Zou J et al.
Investigative Ophthalmology & Visual Science, 2011
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I et al.
Molecular Vision, 2011
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.
Yang J et al.
Plos Genetics, 2010
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I et al.
Human Genetics, 2007
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